Key result
Three female family members across three generations exhibited the characteristic clinical and histological pattern of congenital myotubular myopathy.
Case Report (n=3)
This case series describes the clinical and histological features of familial centronuclear myopathy across three generations.
Supports consideration in familial myopathy differentials; extends female centronuclear myopathy reports but remains hypothesis-generating.
A congenital myotubular myopathy in a family is presented. An elderly woman, her daughter and her granddaughter showed the characteristic clinical and histological pattern of the disease. It is still a matter of debate whether the disease is of myopathic or neuropathic origin. The similarity of the muscle fibre with a myotube of the fetus might point towards an arrest of the maturation after 20th week of gestation perhaps caused by a lack of a trophic factor from the motor nerve.
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Reske‐Nielsen et al. (1987) conducted a case report in Familial centronuclear myopathy (n=3). Familial centronuclear myopathy was evaluated. Three female family members across three generations exhibited the characteristic clinical and histological pattern of congenital myotubular myopathy.
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