Ann Clin Neurophysiol.  2018 Jul;20(2):89-92. 10.14253/acn.2018.20.2.89.

Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

• Park YE
• Shin JH
• Kim HS
• Kim DS

• KMID: 2454711
• DOI: http://doi.org/10.14253/acn.2018.20.2.89

Abstract

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

Keyword

Collagen type VI; Muscular dystrophy; Phenotype

MeSH Terms

Collagen
Collagen Type VI
Contracture
Humans
Joints
Muscular Dystrophies*
Phenotype*
Respiratory Insufficiency
Walking
Collagen
Collagen Type VI

Figure

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  Fig. 1 Clinical features of the patient. (A) Knee contractures were noted bilaterally. (B) A big toe was hyperextensible. (C) Calcaneal bone was protuberant.

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  Fig. 2 Muscle pathology and quantification of the COL6A1 transcript. (A) H&E staining (×200) revealed round-shaped muscle fibers with marked size variations and surrounded by increased connective tissue. (B) Immunohistochemical staining (×200) of collagen VI was moderately reduced when compared with a disease control (C), but localized to both the sarcolemma and extracellular matrix. (D) The transcript level of COL6A1 as quantified by the quantitative reverse-transcription polymerase chain reaction was significantly decreased to 28.6% of the normal value. Bar = 50 µm.

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