Key result
Compound heterozygous mutations in the POMT1 gene (c.1338+1G>A and c.1457G>C) were identified as the genetic cause of milder, later-onset muscular dystrophy-dystroglycanopathy C1 in a Chinese family.
Population
A six-generation consanguineous Han Chinese family with members having autosomal recessive muscular…
Design
Case_series
Authors
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Should not change practice from one case; extends POMT1 mutation spectrum but leaves broader correlations open.
Case Report
Identification of compound heterozygous POMT1 mutations expands the phenotype and mutation spectrum for muscular dystrophy-dystroglycanopathy C1.
Hu et al. (2017) conducted a case report in Muscular dystrophy-dystroglycanopathy (MDDG). Compound heterozygous POMT1 mutations (c.1338+1G>A and c.1457G>C) was evaluated on Genetic cause of MDDG. Compound heterozygous mutations in the POMT1 gene (c.1338+1G>A and c.1457G>C) were identified as the genetic cause of milder, later-onset muscular dystrophy-dystroglycanopathy C1 in a Chinese family.
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