Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.

Abstract excerpt

We describe a Hungarian Roma family, originally investigated for autosomal dominant distal muscular atrophy. The mother started toe walking at 3 years and lost ambulation at age 27. Her three daughters presented with early steppage gait and showed variable progression. Muscle biopsies were nonspecific showing myogenic lesions in the mother and lesions resembling neurogenic atrophy in the two siblings. To identify...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiac Myosins
• Share to Diagnosis, Differential