A New Congenital Non-Progressive Myopathy

Shy, G. Milton; Magee, Kenneth R.

doi:10.1093/brain/79.4.610

Cited by 399 publications

(97 citation statements)

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“…In this case, crises are brought on by physical and emotional stresses, including overheating, exercise, mating, transportation to market and fear [24]. CCD is a rare, congenital myopathy, inherited as an autosomal dominant trait [25,26] and characterized by hypotonia and proximal muscle weakness, which presents in infancy and leads to the delay of motor milestones [27,28]. Both clinical and histological variability is observed, but the clinical course is usually slow or nonprogressive in adults.…”

Section: A L I G N a N T H Y P E R T H E R M I A A N D C E N T R A mentioning

confidence: 99%

Ca²⁺ signalling and muscle disease

MacLennan

2000

European Journal of Biochemistry

221

155

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Transient elevations of intracellular Ca2+ play a signalling role in such complex cellular functions as contraction, secretion, fertilization, proliferation, metabolism, heartbeat and memory. However, prolonged elevation of Ca2+ above about 10 µm is deleterious to a cell and can activate apoptosis. In muscle, there is a narrow window of Ca2+ dysregulation in which abnormalities in Ca2+ regulatory proteins can lead to disease, rather than apoptosis. Key proteins in the regulation of muscle Ca2+ are the voltage‐dependent, dihydropyridine‐sensitive, l‐type Ca2+ channels located in the transverse tubule and Ca2+ release channels in the junctional terminal cisternae of the sarcoplasmic reticulum. Abnormalities in these proteins play a key role in malignant hyperthermia (MH), a toxic response to anesthetics, and in central core disease (CCD), a muscle myopathy. Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCAs) return sarcoplasmic Ca2+ to the lumen of the sarcoplasmic reticulum. Loss of SERCA1a Ca2+ pump function is one cause of exercise‐induced impairment of the relaxation of skeletal muscle, in Brody disease. Phospholamban expressed in cardiac muscle and sarcolipin expressed in skeletal muscle regulate SERCA activity. Studies with knockout and transgenic mice show that gain of inhibitory function of phospholamban alters cardiac contractility and could be a causal feature in some cardiomyopathies. Calsequestrin, calreticulin, and a series of other acidic, lumenal, Ca2+ binding proteins provide a buffer for Ca2+ stored in the sarcoplasmic reticulum. Overexpression of cardiac calsequestrin leads to cardiomyopathy and ablation of calreticulin alters cardiac development.

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Section: A L I G N a N T H Y P E R T H E R M I A A N D C E N T R A mentioning

confidence: 99%

Ca²⁺ signalling and muscle disease

MacLennan

2000

European Journal of Biochemistry

221

155

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“…Our patients have had a long follow-up that allowed us to recognize the benign natural history of the disease, as have others 2,4,5 . In spite of slow progression in most instances, fatal cases of MmD have been described, generally associated with cardiomyopathy 15 .…”

Section: Discussionmentioning

confidence: 80%

“…MmD usually presents as congenital myopathy [2][3][4][5][6][7] rarely as adult-onset disease 12 . As regards the Brazilian literature, Werneck's 13 series of 1500 MB included 47 cases of congenital neuromuscular disorders, of which four were MmD.…”

Section: Discussionmentioning

confidence: 99%

“…They may be single, central or eccentric in transverse sections. In longitudinal sections they stretch for several sarcomeres or up to the whole length of the fiber, as classically seen in central core disease (CCD) 2,3 , in which they involve almost always type 1 fibers. When multiple (designated multicores by Engel et al 4 ) and small (named minicores by Ricoy et al 5 ), cores may affect both fiber types, according to the International Consensus on MmD 1 .…”

Section: Miopatia Dos Multi-minifocos Revisitadamentioning

confidence: 99%

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Multi-minicore disease revisited

Nucci

Queiroz

Zambelli

et al. 2004

Arq. Neuro-Psiquiatr.

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-Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followedup for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.KEY WORDS: congenital myopathy, multi-minicore disease, phenotype, histochemistry, electron microscopy. Miopatia dos multi-minifocos revisitadaRESUMO -A miopatia dos múltiplos minifocos (MM) é doença congênita rara, definida por alterações estruturais observadas ao microscópio óptico e eletrônico: múltiplas e pequenas áreas sem atividade enzimática oxidativa e desorganização focal das proteínas contráteis envolvendo poucos sarcômeros. A forma clássi-ca da doença se manifesta com hipotonia mais ou menos grave e fraqueza generalizada, predominante em músculos axiais e proximais em membros. Entretanto, variantes clínicas existem. A MM é usualmente herdada como traço autossômico recessivo. Heterogeneidade genética tem sido reconhecida e até o momento mutações nos genes RYR1 e SEPN1 foram detectadas. Relatamos três casos de MM. Caso 1, que tem a forma clássica e benigna da doença, assim permaneceu ao longo de 15 anos. Caso 2 apresentou envolvimento faringo-laríngeo e grave atraso no controle cefálico que melhorou gradualmente, até que a deambulação plena foi adquirida aos seis anos; permanece com moderada limitação das atividades da vida diária. Caso 3 teve início pré-natal, expresso através de artrogripose das mãos. Havia predominância de déficit em cintura escapular e o curso tem sido estável, com fisioterapia, por 10 anos. Os casos foram selecionados pelas características morfológicas na biópsia do biceps braquial que incluiu microscopia eletrônica. Enfatizamos, no caso 2, a uniformidade das fibras do tipo 1 e a leve fibrose do endomísio, tendo sido ne...

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“…Il en a été ainsi pour les « cores », zones arrondies, à limites souvent nettes, centrales ou excentrées, visibles dans les fibres musculaires en sections transversales ; en coupes longitudinales, ces zones anormales s'étendent sur tout ou partie de la longueur de la fibre musculaire. Ces « cores » avaient été décrits par M. Shy et al [16] dans une observation familiale restée classique, et les lésions avaient donné naissance à la dénomination d'une nouvelle entité au sein des myopathies congénitales « non progressives », la « Central Core Disease ». La mise en oeuvre des techniques oxydatives dans une seconde observation étudiée par W.K.…”

Section: Premières « Nouveautés » Pathologiquesunclassified

Sur la technique des biopsies musculaires (IV)

Fardeau¹

2017

Med Sci (Paris)

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A New Congenital Non-Progressive Myopathy

Cited by 399 publications

References 0 publications

Ca²⁺ signalling and muscle disease

Ca²⁺ signalling and muscle disease

Multi-minicore disease revisited

Sur la technique des biopsies musculaires (IV)

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A New Congenital Non-Progressive Myopathy

Cited by 399 publications

References 0 publications

Ca2+ signalling and muscle disease

Ca2+ signalling and muscle disease

Multi-minicore disease revisited

Sur la technique des biopsies musculaires (IV)

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Ca²⁺ signalling and muscle disease

Ca²⁺ signalling and muscle disease