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

Nanna Witting, Thomas Krag, Ulla Werlauff, Morten Duno, Sofie Thuroe Oestergaard, Julia Rebecka Dahlqvist, John Vissing

10 Citationer (Scopus)

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.

OriginalsprogEngelsk
TidsskriftMuscle and Nerve
Vol/bind57
Udgave nummer6
Sider (fra-til)1026-1030
ISSN0148-639X
DOI
StatusUdgivet - 2018

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