Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
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Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. / Witting, Nanna; Krag, Thomas; Werlauff, Ulla; Duno, Morten; Oestergaard, Sofie Thuroe; Dahlqvist, Julia Rebecka; Vissing, John.
I: Muscle & Nerve, Bind 57, Nr. 6, 2018, s. 1026-1030.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
N1 - © 2018 Wiley Periodicals, Inc.
PY - 2018
Y1 - 2018
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
VL - 57
SP - 1026
EP - 1030
JO - Muscle & Nerve
JF - Muscle & Nerve
SN - 0148-639X
IS - 6
ER -
ID: 212685122