New genes in neuromuscular diseases

Distal myopathies are a clinically, histopathologically and genetically heterogeneous group of inherited skeletal muscle diseases with muscle weakness predominantly observed in the distal muscles. Despite advancements in high throughput sequencing, a number of patients remain without a molecular diagnosis. Especially sporadic distal myopathy cases, often due to lack of additional family history, usually cannot progress beyond candidate gene approaches. Taking advantage of deep phenotyping and histopathological evidence, we have identified the small muscle protein X gene (SMPX) as a novel disease gene causing the first X-linked form of distal myopathy.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: M. Johari, M. Savarese, A. Vihola, M. Jokela, A. Torella, G. Piluso, P. Jonson, H. Luque, A. Magot, F. Magri, C. Kornblum, T. Stojkovic, N. Romero, P. Lahermo, K. Donner, V. Nigro, P. Hackman, B. Udd Source Type: research