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IntroductionMutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery‐Dreifuss muscular dystrophy (EDMD), limb‐girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria.
MethodsWe provide clinical, histopathological, muscle imaging, and...
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