Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum (Q58052175)

7

0 references

Vincenzo Nigro

object named as

Vincenzo Nigro

8

0 references

Mayana Zatz

9

object named as

Mayana Zatz

0 references

author name string

Natássia Vieira

2

0 references

Alessandra Starling

3

0 references

Lydia Uraco Yamamoto

4

0 references

Bruno Lima

5

0 references

Rita de Cássia Pavanello

European Journal of Human Genetics

6

0 references

publication date

27 November 2003

0 references

published in

0 references

volume

11

0 references

issue

12

0 references

page(s)

923-930

0 references

cites work

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Functional requirements for fukutin-related protein in the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Glycosylation defects in inherited muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Localization of proteins to the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Dysferlin is a plasma membrane protein and is expressed early in human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the caveolin-3 gene: When are they pathogenic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Clinical variability in calpainopathy: what makes the difference?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

The 10 autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

7 January 2021

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

7 January 2021

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

7 January 2021

Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201066

7 January 2021