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

doi:10.1002/mus.26067

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

Department of Clinical Medicine

3 Citations (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 57: 1026-1030, 2018.

Original language	English
Journal	Muscle & Nerve
Volume	57
Issue number	6
Pages (from-to)	1026-1030
ISSN	0148-639X
DOIs	https://doi.org/10.1002/mus.26067
Publication status	Published - Jun 2018

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title = "Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts",

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 57: 1026-1030, 2018.",

author = "Nanna Witting and Thomas Krag and Ulla Werlauff and Morten Duno and Oestergaard, {Sofie Thuroe} and Dahlqvist, {Julia Rebecka} and John Vissing",

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year = "2018",

month = jun,

doi = "10.1002/mus.26067",

language = "English",

volume = "57",

pages = "1026--1030",

journal = "Muscle & Nerve",

issn = "0148-639X",

publisher = "JohnWiley & Sons, Inc.",

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TY - JOUR

T1 - Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

AU - Witting, Nanna

AU - Krag, Thomas

AU - Werlauff, Ulla

AU - Duno, Morten

AU - Oestergaard, Sofie Thuroe

AU - Dahlqvist, Julia Rebecka

AU - Vissing, John

PY - 2018/6

Y1 - 2018/6

N2 - 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 57: 1026-1030, 2018.

AB - 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 57: 1026-1030, 2018.

U2 - 10.1002/mus.26067

DO - 10.1002/mus.26067

M3 - Journal article

C2 - 29342313

SN - 0148-639X

VL - 57

SP - 1026

EP - 1030

JO - Muscle & Nerve

JF - Muscle & Nerve

IS - 6

ER -

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

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