nemaline myopathy 5C

A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.

Signs and symptoms

• Nemaline bodies
• High palate
• Poor head control
• Floppy infant
• Hypotonia
• Motor delay
• Type 1 muscle fiber predominance
• Skeletal muscle atrophy
• Expressive language delay
• Feeding difficulties