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Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

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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.

Original languageEnglish
JournalMuscle and Nerve
Volume57
Issue number6
Pages (from-to)1026-1030
ISSN0148-639X
DOIs
Publication statusPublished - 2018

    Research areas

  • Journal Article

ID: 52672438