Abstract
INTRODUCTION: Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations.
METHODS: Systematic interview, clinical examination, skin biopsies, and MRI of muscle were used.
RESULTS: The phenotype was characterized by neonatal hypotonia, contractures, and delayed motor development followed by resolution of contractures and a motor performance limited by reduced endurance. DNA analyses revealed a novel donor splice-site mutation in COL12A1 (c.8100 + 2T>C), which segregated with clinical affection and abnormal collagen XII retention in fibroblasts. MRI disclosed a selective wasting of the rectus femoris muscle.
DISCUSSION: COL12A1 mutations should be considered in patients with a mild Bethlem phenotype who present with selective wasting of the rectus femoris, absence of the outside-in phenomenon on MRI, and abnormal collagen XII retention in fibroblasts. Muscle Nerve, 2018.
Originalsprog | Engelsk |
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Tidsskrift | Muscle and Nerve |
Vol/bind | 57 |
Udgave nummer | 6 |
Sider (fra-til) | 1026-1030 |
ISSN | 0148-639X |
DOI | |
Status | Udgivet - 2018 |