Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.
Muscle Nerve
; 57(6): 1026-1030, 2018 06.
Article
en En
| MEDLINE
| ID: mdl-29342313
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Atrofia Muscular
/
Músculo Esquelético
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Colágeno Tipo XII
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Fibroblastos
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Enfermedades Musculares
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Mutación
Límite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Muscle Nerve
Año:
2018
Tipo del documento:
Article
País de afiliación:
Dinamarca