Case reportEarly-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)
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Cited by (14)
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources
2022, Clinical Neurology and NeurosurgeryCitation Excerpt :Collagen 6–related muscular dystrophies were reported to be the first or second most prevalent forms of CMD [23,24]. The clinical phenotype of our patients is similar to previous reports including variable degrees of hypotonia, proximal joint contractures, distal joint hyperlaxity and normal or mildly elevated CK [23,24,26]. The second most common identified genes in our series were related to alpha‑dystroglycan‑related muscular dystrophies.
Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter
1995, Journal of the Neurological SciencesBethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
1994, Neuromuscular DisordersBenign muscular dystrophy with autosomal dominant inheritance
1991, Neuromuscular DisordersZebrafish models of collagen VI-related myopathies
2010, Human Molecular Genetics
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