Nemaline Myopathy 8 (NEM8)

Alias:

Nemaline Myopathy 8, Autosomal Recessive

Nem8

Myopathy, Nemaline, Type 8

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Nemaline Myopathy 8, also known as nem8, is related to nemaline myopathy and respiratory failure. An important gene associated with Nemaline Myopathy 8 is KLHL40 (Kelch Like Family Member 40), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are facial palsy and muscle weakness

Related ID：

MALACARDS：NML025

OMIM：615348

MESH：D017696