" /> Nemaline myopathy 5a, autosomal recessive, severe infantile - CISMeF





Preferred Label : Nemaline myopathy 5a, autosomal recessive, severe infantile;

Symbol : NEM5A;

CISMeF acronym : ANM; NEM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ANM; Amish nemaline myopathy; Nemaline myopathy, amish type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the troponin T1 gene (TNNT1, 191041.0001);

Prefixed ID : #605355;

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03/05/2025


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