Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency)

Usuki, Fusako; Takenaga, Satoshi; Higuchi, Itsuro; Kashio, Nobuyuki; Nakagawa, Masanori; Osame, Mitsuhiro

doi:10.1016/0022-510x(94)90135-x

Cited by 14 publications

(14 citation statements)

References 12 publications

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“…The characteristics of Danon disease have been described in a number of case reports [3,6,7,8,10,13,21,24,25,26]. The typical clinical picture includes childhood onset, male predominance (1.8:1) [26], cardiomyopathy, mild myopathy, and mental retardation of variable degree.…”

Section: Discussionmentioning

confidence: 94%

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

et al. 2005

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Section: Discussionmentioning

confidence: 94%

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

et al. 2005

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“…Studies of DD skin biopsy specimens (Alroy et al, 2010) showed identical changes in neurons and smooth muscle cells. Likewise, accumulation of APs was observed in cultured DD skin fibroblasts (Usuki et al, 1994).…”

Section: Introductionmentioning

confidence: 83%

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Majer

Vlášková

Krol

et al. 2012

Gene

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“…Syncopal episodes in young patients were frequent (40% of cases) . On chest X‐ray, cardiomegaly may be found .…”

Section: Clinical Features In Male Patientsmentioning

confidence: 99%

Review: Danon disease: Review of natural history and recent advances

Cenacchi

Papa

Pegoraro

et al. 2019

Neuropathology Appl Neurobio

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Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an X‐linked dominant trait. The primary deficiency of lysosome‐associated membrane protein‐2 (LAMP‐2) causes disruption of autophagy, leading to an impaired fusion of lysosomes to autophagosomes and biogenesis of lysosomes. We surveyed over 500 Danon disease patients reported in the literature from the first description to the present, in order to summarize the clinical, pathological and molecular data and treatment perspectives. An early molecular diagnosis is of crucial importance for genetic counselling and for therapeutic interventions: in male patients, the prognosis is poor due to rapid progression towards heart failure, and only heart transplantation modifies the disease course.

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Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency)

Cited by 14 publications

References 12 publications

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Review: Danon disease: Review of natural history and recent advances

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