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

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Standard

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

Harvard

Witting, N, Krag, T, Werlauff, U, Duno, M, Oestergaard, ST, Dahlqvist, JR & Vissing, J 2018, 'Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts', Muscle & Nerve, bind 57, nr. 6, s. 1026-1030. https://doi.org/10.1002/mus.26067

APA

Witting, N., Krag, T., Werlauff, U., Duno, M., Oestergaard, S. T., Dahlqvist, J. R., & Vissing, J. (2018). Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. Muscle & Nerve, 57(6), 1026-1030. https://doi.org/10.1002/mus.26067

Vancouver

Witting N, Krag T, Werlauff U, Duno M, Oestergaard ST, Dahlqvist JR o.a. Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. Muscle & Nerve. 2018;57(6):1026-1030. https://doi.org/10.1002/mus.26067

Author

Witting, Nanna ; Krag, Thomas ; Werlauff, Ulla ; Duno, Morten ; Oestergaard, Sofie Thuroe ; Dahlqvist, Julia Rebecka ; Vissing, John. / Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. I: Muscle & Nerve. 2018 ; Bind 57, Nr. 6. s. 1026-1030.

Bibtex

@article{b429053f20dd481bab379c1657446584,

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",

note = "{\textcopyright} 2018 Wiley Periodicals, Inc.",

year = "2018",

doi = "10.1002/mus.26067",

language = "English",

volume = "57",

pages = "1026--1030",

journal = "Muscle & Nerve",

issn = "0148-639X",

publisher = "JohnWiley & Sons, Inc.",

number = "6",

}

RIS

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

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