Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Comerlato, Enio Alberto; Scola, Rosana Hermínia; Werneck, Lineü Cesar

doi:10.1590/s0004-282x2005000200009

Cited by 11 publications

(22 citation statements)

References 51 publications

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“…These fifty one samples were freshly frozen and cut on cryostat into 8-micron sections and stained with hematoxylin-eosin, modified Gomori trichrome, oil-red O, PAS, cresyl violet and Figure. The PCR products of exons 3,4,8,13,19,43,45,60 20 . Afterwards, the biopsies were cut into 4-micron sections and submitted to immunohistochemistry for dystrophin proteins (rod and carboxyl-and amino-terminal domains), sarcoglycans (alpha, beta, gamma and delta) and dysferlin [21][22][23][24] .…”

Section: Methodsmentioning

confidence: 99%

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

Freund

Scola

Arndt

et al. 2007

Arq. Neuro-Psiquiatr.

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-Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains). The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.KEY WORDS: Duchenne muscular dystrophy, Becker muscular dystrophy, immunohistochemistry, PCR, deletions, exons. Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímicaRESUMO -As distrofias musculares de Duchenne (DMD) e de Becker (DMB) são doenças causadas por mutação no gene da distrofina. Foram estudados 106 casos com a suspeita diagnóstica de DMD/BMD com a analise de 20 exons do gene da distrofina no sangue e biópsia muscular com imuno-histoquímica para distrofina em alguns casos. Em 71,7% dos casos foi encontrada deleção em pelo menos um dos exons, sendo que 68% das deleções localizam-se na região 3´ hot spot. Foram encontradas deleções em 81,5% dos DMD e em todos os BMD, sendo que os sem deleção tinham deficiência de distrofina, incluindo a mulher com DMD. As portadoras sintomáticas não tinham deleções mas anormalidades na distribuição da distrofina no sarcolema. Os outros casos sem deleção, com auxilio da biópsia muscular tiveram outros diagnósticos (atrofia muscular espinhal, miopatia congênita, deficiência de sarcoglicanos, distrofia de cinturasmembros sem classificação). A análise imuno-histoquímica para distrofina na biópsia muscular continua sendo o método mais específico para diagnóstico de DMD/DMB e deve ser utilizado quando não são encontradas deleções do gene da distrophina no sangue.

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Section: Methodsmentioning

confidence: 99%

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

Freund

Scola

Arndt

et al. 2007

Arq. Neuro-Psiquiatr.

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“…Muscle biopsy has great value in the diagnosis of LGMD 2B diagnosis 15 and can demonstrate a membrane attack complex on the sarcolemma of non-necrotic muscle fibers. This feature is also seen in other dystrophies with secondary inflammation, but not in primary inflammatory myopathies like polymyositis 16 .…”

Section: Discussionmentioning

confidence: 99%

Limb-girdle muscular dystrophy type 2B mimicking polymyositis

Pimentel

Alcantara

Fontenele

et al. 2008

Arq. Neuro-Psiquiatr.

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“…The procedure was performed as previously described. 16,17 The average density of the bands were visualized and analyzed by Quantity One 4.6.2 software (Bio-Rad Laboratories, Sundbyberg, Sweden).…”

Section: Western Blot Analysismentioning

confidence: 99%

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population

Wang

Maarel

et al. 2010

Eur J Hum Genet

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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited muscular dystrophy with markedly clinical variability and complex genetic cause. Several reports pertaining to the Caucasian population have confirmed that there are 4qA and 4qB variants of the 4qter subtelomere, and FSHD is uniquely associated with the 4qA variant. However, few data relevant to the Chinese population have been published. In present paper, detailed clinical and genetic re-evaluations were performed in members of four special families who had been initially diagnosed as atypical or asymptomatic FSHD based only on the D4Z4 repeat length analysis. The FSHD-sized D4Z4 repeats in the probands from families 1, 2 and 3 were identified as 4qB variants. These patients were further confirmed as limb-girdle muscular dystrophy (LGMD2) or myotonic dystrophy (DM1) by molecular analyses. Specifically, we identified a 4qB variant on chromosome 10 in the healthy members of the fourth FSHD family with complex D4Z4 rearrangements of two exchanged repeat arrays. For the first time, we demonstrated in the Chinese population that D4Z4 contractions on the 4qB variant do not cause FSHD and 4qB variant on chromosome 10 might also represent intermediate structures in the transition from 4q to 10q. Furthermore, our results emphasize that D4Z4 repeat length analysis alone is not sufficient for the diagnosis of FSHD, especially when used as an exclusion criterion. This analysis should be accompanied by 4qA/4qB variant determination and integrated chromosome assignments, especially in patients with obscure and unclassified myopathies similar to atypical forms of FSHD.

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Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Cited by 11 publications

References 51 publications

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach

Limb-girdle muscular dystrophy type 2B mimicking polymyositis

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population

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