Key result
Limb-girdle muscular dystrophies are a highly heterogeneous group of diseases with over 30 distinct subtypes, requiring comprehensive clinical, morphological, and genetic evaluation for precise diagnosis.
This review provides a comprehensive overview of the rapidly expanding classification, clinical features, and diagnostic approaches for limb-girdle muscular dystrophies, including subtypes with significant cardiac involvement.
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Clinicians should include cardiac phenotyping in LGMD workups; leaves open standardized screening protocols for validation.
Bastian et al. (2015) conducted a review in Limb-girdle muscular dystrophies (LGMD). Limb-girdle muscular dystrophies are a highly heterogeneous group of diseases with over 30 distinct subtypes, requiring comprehensive clinical, morphological, and genetic evaluation for precise diagnosis.
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