| Main clinical features
|
infantile and later onset forms, high frequency of respiratory complications and CK levels that range from normal to mildly elevated
limb weakness was present in all affected individuals, and there was lower extremity and proximal dominance
axial weakness was a prominent feature, and neck flexion weakness was present in almost all affected individuals
joint contractures, muscle atrophy or muscle hypertrophy
nerve conduction studies were normal
on muscle biopsy : a range of myopathic findings, including prominent variation in myofiber size, increased internal nuclei, myofiber splitting, myofiber necrosis and phagocytosis, mild to marked endomysial fibrosis, and various degrees of fatty transformation |