Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype

In this report, we add to the medical literature by describing the clinicopathological findings in 8 affected family members from 4 new LDM families—including 2 with novel MYH7 mutations (Y162D and A1438P), one with dual mutations (V39M and K1617del), and one family (E1508del) with severe early-onset weakness associated with contractures, respiratory insufficiency, and dilated cardiomyopathy. Our families highlight the ever-expanding clinical spectrum and genetic variation of the skeletal myopathies related to MYH7 gene mutations.
Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Original Article Source Type: research