Congenital myasthenic syndrome with tubular aggregates

rare

A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.

Identifiers: MONDO:0000182
Part of: Congenital myasthenic syndrome Congenital nervous system disorder
Also known as: CMS-TA · myasthenic syndrome, congenital, with tubular aggregates

Subtypes

Disease	ID	Genes
Congenital myasthenic syndrome 12	MONDO:0012518	GFPT1
Congenital myasthenic syndrome 13	MONDO:0013883	DPAGT1
Congenital myasthenic syndrome 14	MONDO:0014543

Rare disease

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