Key result
Bi-allelic mutations in the GMPPB gene were identified in 18% (13 of 73) of Italian patients with alpha-dystroglycanopathy, revealing a broad phenotypic spectrum from severe congenital to mild adult-onset muscular dystrophy.
Population
73 Italian patients with muscle biopsy-confirmed low α-dystroglycan expression, from which 13 patients were…
Design
Cross-sectional
Authors
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May inform GMPPB testing in alpha-dystroglycanopathy; leaves open prospective validation of clinical utility.
Cross-Sectional (n=73)
Yes
The study expands the phenotypic spectrum and genetic landscape of GMPPB-related dystroglycanopathies, highlighting novel mutations and neurodevelopmental comorbidities.
Astrea et al. (2018) conducted a cross-sectional in GMPPB-related dystroglycanopathies (n=73). GMPPB mutations vs. Unmutated GMPPB / other alpha-dystroglycanopathies was evaluated on Frequency of GMPPB mutations in alpha-dystroglycanopathy patients. Bi-allelic mutations in the GMPPB gene were identified in 18% (13 of 73) of Italian patients with alpha-dystroglycanopathy, revealing a broad phenotypic spectrum from severe congenital to mild adult-onset muscular dystrophy.