Centronuclear myopathy (CNM) is a rare muscle disease associated with non-progressive or slowly progressive muscle weakness that can develop from infancy to adulthood. On muscle histopathology, patients with CNM have increased frequency of central nuclei, as well as type 1 fiber predominance and hypotrophy, in the absence of other significant abnormalities. Patients with autosomal recessive BIN1-associated CNM [OMIM#255200] appear to have an intermediate presentation that is less severe than classic XLMTM but more severe than most cases of dominant or DNM2-associated CNM. The small number of patients reported thus far have presented at birth or in childhood with slowly progressive proximal or diffuse muscle weakness and/or delayed motor milestones. BIN1 mutations appear to be relatively rare, accounting for approximately 25% of cases of CNM with apparent recessive inheritance but only a small percentage of all CNM cases combined. To date no deletions or duplications involving the BIN1 gene as causative of centronuclear/myotubular myopathy have been reported.
Specimen Types Accepted
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