Population
Two siblings from a consanguineous family with congenital muscular dystrophy
Design
Case_series
Authors
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Supports mild LAMA2 phenotypes via in-frame deletions; leaves open validation for prognosis or management in larger cohorts.
An in-frame deletion in the LAMA2 gene can result in a semi-functional laminin alpha2-chain and a mild congenital muscular dystrophy phenotype, analogous to Becker muscular dystrophy.
Allamand et al. (1997) studied this question.
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