Centronuclear myopathy: clinical, morphological and genetic characters a review of 288 cases

Abstract

We reviewed the 288 cases of centronuclear (myotubular) myopathy reported in the literature to correlate the clinical findings with the different modes of inheritance. Autosomal dominant (AD) inheritance occurred in 65 patients in 14 families. Recessive X-linked transmission (XLR) was present in 84 males belonging to 14 families. In 54 familial cases and in 85 isolated cases the mode of inheritance was uncertain. The clinical picture was very severe in the XLR form with most dying in the first year of life, and more heterogeneous and much less severe in the AD form. Clinico-genetic analysis of unclassified familial and isolated cases suggested that most of them fifted in either the AD and the XLR form. The diagnosis of the autosomal recessive mode of inheritance, in the past considered to be the most frequent type, is possible in a minority of cases and is difficult to document.