Key result
Multiple protein screening and gene mutation analysis yielded a molecular diagnosis in 60% of total LGMD cases and 14% of hyperCKemia cases, correlating with the degree of clinical involvement.
Population
550 muscle biopsies from Italian patients with distinct clinical phenotypes
Design
Cohort
Authors
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Supports protein-first diagnostics in severe LGMD; leaves open broader screening in mild hyperCKemia.
Observational (n=550)
The probability of obtaining a molecular diagnosis for LGMD is directly related to the severity of clinical involvement and increases significantly when a protein defect is found in a muscle biopsy.
Nascimbeni et al. (2009) conducted an observational in Limb-girdle muscular dystrophy (LGMD) (n=550). Multiple protein screening and gene mutation analysis was evaluated on Frequency of molecularly ascertained cases. Multiple protein screening and gene mutation analysis yielded a molecular diagnosis in 60% of total LGMD cases and 14% of hyperCKemia cases, correlating with the degree of clinical involvement.
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