R. Jacob

TL;DR: Mutations in the human skeletal muscle α-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy, characterized by structural abnormalities of the muscle fibres and variable degrees of muscle weakness.

TL;DR: It is confirmed that a definite genetic cause for PROMM has been identified in this family and an incidental CLCN1 mutation did not segregate with the disease.

TL;DR: The clinical and laboratory findings in the largest kindred so far recorded with familial amyotrophic lateral sclerosis due to an A4T mutation in the SOD1 gene show weakness in the legs was the most frequent early symptom and there was a predominance of lower motor neuron signs.

TL;DR: The fact that the affected individuals in the current and Gypsy families are γ-sarcoglycan negative may indicate that codons 69 and 283 are important in γ -sARCoglycan function.