Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

Kawai, Hisaomi; Akiyama, Masashi; Endo, Takenori; Adachi, Kazutaka; Inui, Toshio; Mitsui, Tetsuo; Kashiwagi, Setsuko; Fujiwara, Tsutomu; Okuno, Shiro; Shin, Sadahito

doi:10.1172/jci118152

Cited by 40 publications

(22 citation statements)

References 27 publications

(20 reference statements)

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“…30 Therefore, the myocardial damage should mimic the cardiomyopathy due to dystrophin deficiency. [21][22][23]26 Actually, in our cohort of sarcoglycan-deficient patients showing a DMD-like phenotype, cardiac abnormalities were similar to those observed in most DMD patients 14,23 ; that is, incomplete right bundlebranch block and tall R waves, and left ventricular wall motion abnormalities with or without a reduced ejection fraction. In 2 of 6 SG-deficient cases showing a LGMD phenotype, the cardiac involvement was the same as that observed in early stages of Becker's muscular dystrophy.…”

Section: Discussionsupporting

confidence: 79%

“…21,22 Data from the present study agree with previous reports, suggesting that patients with cardiac abnormalities also show a severe phenotype at the skeletal muscle level. 2,14,12,32 No correlation was observed between the presence of cardiac abnormalities and the level of ␣-sarcoglycan protein detected. In general, mutations in ␤-and ␥-SG genes are associated with severe muscular dystrophy.…”

Section: Discussionmentioning

confidence: 93%

“…In DMD-like patients with ␣-SG gene mutations, tall R waves in lead V 1 and Q waves in lead I or aVL or left ventricular hypertrophy were observed. 14,12,32 Moreover, in DMD-like patients carrying ␦-SG gene mutations, ECG and echocardiographic abnormalities were observed.…”

Section: Discussionmentioning

confidence: 99%

“…30 In particular, mutations in the genes for sarcoglycan (SG) complex components have been detected in autosomal-recessive muscular dystrophies (sarcoglycanopathies), which range from a severe DMD-like phenotype to a mild, adult-onset limb-girdle (LGMD) phenotype. [2][3][4][5][7][8][9][10]12,14,16,19,27,29,[31][32][33] Cardiac involvement in sarcoglycanopathies is expected, because SGs are highly expressed in the myocardium. 16,18,29 In the animal model of sarcoglycanopathy, the Syrian hamster, ␦-SG gene mutations produce a lethal cardiomyopathy.…”

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confidence: 99%

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Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

et al. 1999

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Mutations in the sarcoglycan genes cause autosomal‐recessive muscular dystrophies. Because sarcoglycan genes and their protein products are highly expressed both in skeletal and cardiac muscle, patients with these mutations might be expected to be at risk to develop dilated cardiomyopathy. We therefore studied 13 patients with α‐, β‐, γ‐sarcoglycan gene mutations by thorough cardiological assessment. Electrocardiographic or echocardiographic abnormalities were observed in about 30% of cases showing a severe course of muscular dystrophy. No correlation was found between the presence of cardiac abnormalities and the type of mutation or sarcoglycan gene involved. The cardiac involvement was never severe, but it may be detected in early stages of the muscle disease. The absence of overt cardiac dysfunction may be due to lower sarcoglycan protein expression in cardiac than skeletal muscle or to less sarcolemmal instability at the myocardial level, possibly related to the different distribution of forces generated by contraction of the myocardium with respect to proximal limb‐girdle muscles. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 473–479, 1999.

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Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

et al. 1999

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“…33,34 Variations were observed in other LGMD2A patients; the ages of onset ranged from 3 to 40 years, and ages at loss of walking ability also differed widely. Patients with other types of muscular dystrophy such as sarcoglycanopathy 5,27,35 or malignant limb-girdle muscular dystrophy, 23,30 showed significant heterogeneity in clinical severity. 12,28 The percentage of the LGMD2A families to LGMD families with consanguineous parents examined was 60% (three out of five families).…”

Section: Discussionmentioning

confidence: 99%

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

et al. 1998

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Sarcoglycans in muscular dystrophy

Hack

Groh

McNally

2000

Microsc. Res. Tech.

133

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Muscular dystrophy is a heterogeneous genetic disease that affects skeletal and cardiac muscle. The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans. Furthermore, defects in dystrophin have been shown to cause a disruption of the normal expression and localization of the sarcoglycan complex. Thus, abnormalities of sarcoglycan are a common molecular feature in a number of dystrophies. By combining biochemistry, molecular cell biology, and human and mouse genetics, a growing understanding of the sarcoglycan complex is emerging. Sarcoglycan appears to be an important, independent mediator of dystrophic pathology in both skeletal muscle and heart. The absence of sarcoglycan leads to alterations of membrane permeability and apoptosis, two shared features of a number of dystrophies. β‐sarcoglycan and δ‐sarcoglycan may form the core of the sarcoglycan subcomplex with α‐ and γ‐sarcoglycan less tightly associated to this core. The relationship of ϵ‐sarcoglycan to the dystrophin‐glycoprotein complex remains unclear. Animals lacking α‐, γ‐ and δ‐sarcoglycan have been described and provide excellent opportunities for further investigation of the function of sarcoglycan. Dystrophin with dystroglycan and laminin may be a mechanical link between the actin cytoskeleton and the extracellular matrix. By positioning itself in close proximity to dystrophin and dystroglycan, sarcoglycan may function to couple mechanical and chemical signals in striated muscle. Sarcoglycan may be an independent signaling or regulatory module whose position in the membrane is determined by dystrophin but whose function is carried out independent of the dystrophin‐dystroglycan‐laminin axis. Microsc. Res. Tech. 48:167–180, 2000. © 2000 Wiley‐Liss, Inc.

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Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

Cited by 40 publications

References 27 publications

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

Sarcoglycans in muscular dystrophy

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