Table 4a.

Congenital Myopathies of Interest in the Differential Diagnosis of Laing Distal Myopathy

Gene(s)DisorderMOIComment
DNM2
MTM1 		Centronuclear myopathy (CNM); e.g., CNM1 (OMIM 160150) & XL myotubular myopathyAD
XL		Ptosis & restriction of eye movements are common.
NEB Distal nebulin myopathy 2 (OMIM 256030)ARMuscle biopsy shows nemaline bodies.
RYR1 Central core disease (OMIM 117000)AD
AR		Weakness is more proximal than distal, affecting hip girdle in particular; muscle biopsy shows central cores.

From: Laing Distal Myopathy

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