Myopathy of distal lower limbs: the clinical variant of Miyoshi

Soares, Cristiane; Freitas, Marcos R. G. de; Nascimento, Osvaldo J. M.; Silva, Lenilda Ferreira da; Freitas, Andrea R. de; Werneck, Lineü Cesar

doi:10.1590/s0004-282x2003000600011

Cited by 12 publications

(8 citation statements)

References 16 publications

(31 reference statements)

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“…The great variability in the age of onset difficult the characterization of a typical pattern to each type of LGMD, and the mean age of onset can be common to more than one. We have verified that the cases with dysferlin deficiency showed a later onset 33,35 and the degrees of deficiency of the sarcoglycan protein complex proteins did not interfere in a meaningful way in the age at onset either 36 .…”

Section: Discussionsupporting

confidence: 56%

“…Some specific patterns can be observed in the calpainopathy (LGMD2A), by involvement of posterior limb-girdle and trunk muscles; in the dysferlinopathy (LGMD2B), by involvement of the posterior compartment of the legs 33,38,39 ; in the telethoninopathy (LGMD2G) and titinopathy (LGMD2J), by involvement of the anterior compartment of leg 22,34 . The facial weakness can be observed in advanced stages of the illness in the sarcoglycanopathies (LGMD2C-2F) 4 0 , and occasionally in the calpainopathy (LGMD2A) and telethoninopathy (LGMD2G) 2 2 , 3 7 .…”

Section: Discussionmentioning

confidence: 99%

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Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Comerlato

Scola

Werneck

2005

Arq. Neuro-Psiquiatr.

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The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Comerlato

Scola

Werneck

2005

Arq. Neuro-Psiquiatr.

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“…Biopsy of an uninvolved quadriceps muscle shows minimal myopathic changes, including variability of myofibers size and internal nuclei but absent indirect immunofluorescence for dysferlin staining of the muscle membrane (71). If possible, the biceps femoris muscle should be biopsied with an expectation of showing diagnostic histopathologic findings.…”

Section: Classic Distal Myopathiesmentioning

confidence: 99%

Distal Myopathies

Dimachkie

Barohn

2014

Neurologic Clinics

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Over a century ago, Gowers described two young patients in whom distal muscles weakness involved the hand, foot, sternocleidomastoid, and facial muscles in the other case the shoulder and distal leg musculature. Soon after, , similar distal myopathy cases were reported whereby the absence of sensory symptoms and of pathologic changes in the peripheral nerves and spinal cord at postmortem examination allowed differentiation from Charcot-Marie-Tooth disease. In 1951, Welander described autosomal dominant (AD) distal arm myopathy in a large Scandanavian cohort. Since then the number of well-characterized distal myopathies has continued to grow such that the distal myopathies have formed a clinically and genetically heterogeneous group of disorders. Affected kindred commonly manifest weakness that is limited to foot and toe muscles even in advanced stages of the disease, with variable mild proximal leg, distal arm, neck and laryngeal muscle involvement in selected individuals. An interesting consequence of the molecular characterization of the distal myopathies has been the recognition that mutation in a single gene can lead to more than one clinical disorder. For example, Myoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD) type 2B are allelic disorders due to defects in the gene that encodes dysferlin. The six well described distal myopathy syndromes are shown in Table 1. Table 2 lists advances in our understanding of the myofibrillar myopathy group and Table 3 includes more recently delineated and less common distal myopathies. In the same manner, the first section of this review pertains to the more traditional six distal myopathies followed by discussion of the myofibrillar myopathies. In the third section, we review other clinically and genetically distinctive distal myopathy syndromes usually based upon single or smaller family cohorts. The fourth section considers other neuromuscular disorders that are important to recognize as they display prominent distal limb weakness.

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“…O estabelecimento rápido e uniforme das plântulas no campo é pré-requisito fundamental para se alcançar bom estande e garantir a produtividade e qualidade do produto colhido (SOARES et al, 2002;NASCIMENTO, 2005 Diversos autores tem estudado os efeitos da suplementação nutricional através da substituição parcial ou total do fornecimento salino pela adubação mineral. Para isso uma opção apresentada pelas pesquisas é o uso de biofertilizante, que refere-se aos compostos contendo microrganismos para incrementar a disponibilidade e absorção de nutrientes minerais, além de fornecer substâncias húmicas ao solo, que podem incrementar a absorção de alguns elementos e potencialmente minimizar os efeitos deletérios da salinidade.…”

Section: Introductionunclassified

Interação Entre Substrato E Bioestimulante Em Mudas De Pimenta Produzidas Com Solução Nutritiva Salina

Alves¹,

Santos²,

Costa³

et al. 2017

Anais Do IV Inovagri International Meeting - 2017

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Com sementes cor palha que germinam entre 14 e 28 dias. A colheita inicia-se entre 100 e 110 dias apos a semeadura. (TEIXEIRA,1996; PANORAMA RURAL, 2006;CORDEIRO et al., 2010).As sementes de pimenta apresentam baixa germinação ou ainda germinação desuniforme em decorrência de algum tipo de dormência fisiológica, sendo mais comumente relacionada com a impermeabilidade. O estabelecimento rápido e uniforme das plântulas no campo é pré-requisito fundamental para se alcançar bom estande e garantir a produtividade e qualidade do produto colhido (SOARES et al., 2002;NASCIMENTO, 2005 Diversos autores tem estudado os efeitos da suplementação nutricional através da substituição parcial ou total do fornecimento salino pela adubação mineral. Para isso uma opção apresentada pelas pesquisas é o uso de biofertilizante, que refere-se aos compostos contendo microrganismos para incrementar a disponibilidade e absorção de nutrientes

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Myopathy of distal lower limbs: the clinical variant of Miyoshi

Cited by 12 publications

References 16 publications

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

Distal Myopathies

Interação Entre Substrato E Bioestimulante Em Mudas De Pimenta Produzidas Com Solução Nutritiva Salina

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