Congenital myopathies: general and ryr1

Congenital myopathies are a heterogeneous group of inherited muscle disorders characterised by the presence of distinctive morphological features on skeletal muscle biopsy. Cores myopathies show the presence of cores, corresponding to well-delimited rounded areas devoid of oxidative staining. AD RYR1 and MYH7 gene mutations have been found in central core and eccentric cores disease patients. Nevertheless, several cores myopathy patients remain genetically unsolved. Our patient was the third child born to healthy non-consanguineous parents.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: E. Malfatti, X. Lornage, J. B öhm, G. Brochier, R. Carlier, J. Laporte, M. Fardeau, N. Romero Source Type: research