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Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
Author(s) -
Witting Nanna,
Krag Thomas,
Werlauff Ulla,
Duno Morten,
Oestergaard Sofie Thuroe,
Dahlqvist Julia Rebecka,
Vissing John
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26067
Subject(s) - muscle contracture , wasting , myopathy , muscle biopsy , atrophy , medicine , hypotonia , muscle hypotonia , pathology , muscle atrophy , anatomy , biopsy
: 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