Pages that link to "Q41809708"
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The following pages link to Autosomal recessive inheritance of classic Bethlem myopathy (Q41809708):
Displaying 21 items.
- Congenital muscular dystrophies: a brief review (Q28255519) (← links)
- Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
- Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies (Q33543362) (← links)
- Whole-genome sequencing and the clinician: a tale of two cities (Q34092299) (← links)
- The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
- Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy (Q34236492) (← links)
- Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. (Q34338854) (← links)
- Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (Q35080325) (← links)
- ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
- Flow cytometry analysis: a quantitative method for collagen VI deficiency screening (Q36852826) (← links)
- Natural history of pulmonary function in collagen VI-related myopathies (Q37383472) (← links)
- Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy (Q37499822) (← links)
- The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
- Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations (Q37618496) (← links)
- Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy (Q37632993) (← links)
- The ever-expanding spectrum of congenital muscular dystrophies (Q38029277) (← links)
- Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (Q38221009) (← links)
- Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) (← links)
- Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy (Q46176595) (← links)
- Bethlem myopathy: pregnancy and delivery. (Q46934479) (← links)
- A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy (Q48695686) (← links)