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Distal myopathy secondary to a mutation in myotilin

Distal myopathy secondary to a mutation in myotilin
Distal myopathy secondary to a mutation in myotilin
Distal myopathies are inherited primary muscle and may be caused by defects in structural components of the sarcomere. We present a family with a distal myopathy secondary to a mutation in myotilin.
A 70-year-old male reported progressive difficulty walking from his early 50s when he developed a tendency for his feet to flap followed by increasing problems rising from a chair. A younger sister had identical symptoms and their father had an abnormal gait from his fifth decade.
On examination, he had a lordotic gait and a distal pattern of weakness in his lower limbs. Creatine kinase was marginally raised and an MRI of his legs showed a distinctive pattern of fatty replacement of muscle.
Muscle biopsy revealed non-selective fibre atrophy and numerous eosinophilic inclusions surrounded by asophilic granules. Molecular genetic analysis of titan was normal but a myotilin S60C missense mutation was found in both siblings.
Myotilin is a 57 kDa Z-disc component that interacts with alpha-actinin, filamin-C, calsarcin and actin which controls sarcomere assembly. Seven mutations have been reported which give rise to two phenotypes—either LGMD1A or a distal myofibrillar myopathy. This family is only the second to be reported with this particular mutation.
0022-3050
338
Dick, D.J.
23e86226-d66f-417f-89ac-b080133882fd
Hammans, S.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Xuereb, J.H.
84847142-ce70-40ac-8c21-66bb596b73ac
Udd, B.
cf9d754b-c926-4fe2-b83a-07340323c40d
Dick, D.J.
23e86226-d66f-417f-89ac-b080133882fd
Hammans, S.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Xuereb, J.H.
84847142-ce70-40ac-8c21-66bb596b73ac
Udd, B.
cf9d754b-c926-4fe2-b83a-07340323c40d

Dick, D.J., Hammans, S., Xuereb, J.H. and Udd, B. (2008) Distal myopathy secondary to a mutation in myotilin. Journal of Neurology Neurosurgery and Psychiatry, 79 (3), 338.

Record type: Article

Abstract

Distal myopathies are inherited primary muscle and may be caused by defects in structural components of the sarcomere. We present a family with a distal myopathy secondary to a mutation in myotilin.
A 70-year-old male reported progressive difficulty walking from his early 50s when he developed a tendency for his feet to flap followed by increasing problems rising from a chair. A younger sister had identical symptoms and their father had an abnormal gait from his fifth decade.
On examination, he had a lordotic gait and a distal pattern of weakness in his lower limbs. Creatine kinase was marginally raised and an MRI of his legs showed a distinctive pattern of fatty replacement of muscle.
Muscle biopsy revealed non-selective fibre atrophy and numerous eosinophilic inclusions surrounded by asophilic granules. Molecular genetic analysis of titan was normal but a myotilin S60C missense mutation was found in both siblings.
Myotilin is a 57 kDa Z-disc component that interacts with alpha-actinin, filamin-C, calsarcin and actin which controls sarcomere assembly. Seven mutations have been reported which give rise to two phenotypes—either LGMD1A or a distal myofibrillar myopathy. This family is only the second to be reported with this particular mutation.

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More information

Published date: March 2008
Additional Information: Abstract. ABN Scientific Meeting, Queen Elizabeth II Conference Centre, Westminster, London, 14–16 November 2007

Identifiers

Local EPrints ID: 70799
URI: http://eprints.soton.ac.uk/id/eprint/70799
ISSN: 0022-3050
PURE UUID: 2f2afaf2-a6a5-4675-acfd-600f192a108d

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Date deposited: 17 Mar 2010
Last modified: 19 Jul 2017 00:03

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