The neuromuscular differential diagnosis of joint hypermobility (Q38395355)

2 September 2017

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title

The neuromuscular differential diagnosis of joint hypermobility (English)

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2 September 2017

B Loeys

3

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author name string

S Donkervoort

1

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2 September 2017

C G Bonnemann

2

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2 September 2017

H Jungbluth

4

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2 September 2017

N C Voermans

5

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2 September 2017

publication date

1 March 2015

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

2 September 2017

published in

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2 September 2017

volume

169C

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2 September 2017

issue

1

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2 September 2017

page(s)

23-42

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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

The collagen VI-related myopathies: muscle meets its matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Muscle fibrillin deficiency in Marfan's syndrome myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Ehlers-Danlos syndrome, clotting disorders and muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Diagnostic approach to the congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Functional structure and composition of the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Collagen type VI myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Identification, content, and distribution of type VI collagen in bovine tendons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Selenoprotein N in skeletal muscle: from diseases to function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Musculoskeletal findings of Loeys-Dietz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Spontaneous keloid formation in patients with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Natural history of pulmonary function in collagen VI-related myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

The Marfan syndrome: joint and skin manifestations are prevalent and correlated

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

The biology of the extracellular matrix: novel insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Symposium on the musculoskeletal aspects of Marfan syndrome: meeting report and state of the science

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

21 January 2018

Multi-minicore Disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Collagen VI related muscle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

The revised Ghent nosology for the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loeys-Dietz syndrome: a primer for diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Compound heterozygous mutations of the TNXB gene cause primary myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Neuromuscular features in Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

Cardiac and Pulmonary Investigations in Bethlem Myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31433

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31433

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2 September 2017

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