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Article: Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

TitleLimb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
Authors
KeywordsLaminin α5
Congenital muscular dystrophy
Laminin α2
Limb girdle muscular dystrophy
Merosin-deficient
Peripheral neuropathy
Issue Date2014
Citation
Neuromuscular Disorders, 2014, v. 24, n. 8, p. 677-683 How to Cite?
AbstractWe report an eleven year old girl with early motor difficulties initially diagnosed with a peripheral neuropathy in another hospital based on abnormal electrophysiological findings. Our clinical assessment did not highlight obvious clinical features supporting a peripheral neuropathy but evidence of mild proximal weakness. Electrophysiological studies performed at our hospital revealed evidence of a sensorimotor demyelinating polyneuropathy with possible axonal involvement. Brain magnetic resonance imaging (MRI) revealed subtle white matter signal abnormalities, interpreted as nonspecific. Given the patient's proximal weakness and a mildly elevated serum creatine kinase, we performed a muscle biopsy. The muscle had mildly dystrophic features and subtly depleted laminin α2 expression. There was diffusely upregulated laminin α5 expression, and depletion of laminin α2 in intramuscular motor nerves, which made us suspect a partial laminin α2 (merosin) deficiency. Muscle MRI showed predominant posterior and medial compartments involvement. The patient was found to have autosomal recessively inherited double heterozygous LAMA2 mutations. This case illustrates the mild end of the partial merosin deficiency phenotypic spectrum, and highlights how careful assessment of laminin α2 expression in intramuscular motor nerves can be a helpful diagnostic clue in partial merosin deficiency. © 2014.
Persistent Identifierhttp://hdl.handle.net/10722/233844
ISSN
2015 Impact Factor: 3.107
2015 SCImago Journal Rankings: 1.447

 

DC FieldValueLanguage
dc.contributor.authorChan, Sophelia H S-
dc.contributor.authorFoley, A. Reghan-
dc.contributor.authorPhadke, Rahul-
dc.contributor.authorMathew, Ann Agnes-
dc.contributor.authorPitt, Matthew-
dc.contributor.authorSewry, Caroline-
dc.contributor.authorMuntoni, Francesco-
dc.date.accessioned2016-09-27T07:21:47Z-
dc.date.available2016-09-27T07:21:47Z-
dc.date.issued2014-
dc.identifier.citationNeuromuscular Disorders, 2014, v. 24, n. 8, p. 677-683-
dc.identifier.issn0960-8966-
dc.identifier.issn1873-2364-
dc.identifier.urihttp://hdl.handle.net/10722/233844-
dc.description.abstractWe report an eleven year old girl with early motor difficulties initially diagnosed with a peripheral neuropathy in another hospital based on abnormal electrophysiological findings. Our clinical assessment did not highlight obvious clinical features supporting a peripheral neuropathy but evidence of mild proximal weakness. Electrophysiological studies performed at our hospital revealed evidence of a sensorimotor demyelinating polyneuropathy with possible axonal involvement. Brain magnetic resonance imaging (MRI) revealed subtle white matter signal abnormalities, interpreted as nonspecific. Given the patient's proximal weakness and a mildly elevated serum creatine kinase, we performed a muscle biopsy. The muscle had mildly dystrophic features and subtly depleted laminin α2 expression. There was diffusely upregulated laminin α5 expression, and depletion of laminin α2 in intramuscular motor nerves, which made us suspect a partial laminin α2 (merosin) deficiency. Muscle MRI showed predominant posterior and medial compartments involvement. The patient was found to have autosomal recessively inherited double heterozygous LAMA2 mutations. This case illustrates the mild end of the partial merosin deficiency phenotypic spectrum, and highlights how careful assessment of laminin α2 expression in intramuscular motor nerves can be a helpful diagnostic clue in partial merosin deficiency. © 2014.-
dc.languageeng-
dc.relation.ispartofNeuromuscular Disorders-
dc.subjectLaminin α5-
dc.subjectCongenital muscular dystrophy-
dc.subjectLaminin α2-
dc.subjectLimb girdle muscular dystrophy-
dc.subjectMerosin-deficient-
dc.subjectPeripheral neuropathy-
dc.titleLimb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.nmd.2014.05.008-
dc.identifier.pmid24957499-
dc.identifier.scopuseid_2-s2.0-84903940255-
dc.identifier.hkuros229007-
dc.identifier.volume24-
dc.identifier.issue8-
dc.identifier.spage677-
dc.identifier.epage683-

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