Key result
GMPPB mutations present a broad phenotypic spectrum, including adult or adolescent-onset limb-girdle muscular dystrophy, isolated rhabdomyolysis, and congenital muscular dystrophy.
Case Report (n=8)
The phenotypic spectrum of GMPPB mutations is broader than previously recognized, including adult-onset limb-girdle muscular dystrophy and isolated rhabdomyolysis.
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May broaden genetic testing in adult LGMD; leaves open prevalence of non-FKRP adult-onset dystroglycanopathies.
Cabrera‐Serrano et al. (2015) conducted a case report in GMPPB mutations (n=8). GMPPB mutations was evaluated on Phenotypic presentation. GMPPB mutations present a broad phenotypic spectrum, including adult or adolescent-onset limb-girdle muscular dystrophy, isolated rhabdomyolysis, and congenital muscular dystrophy.
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