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Quoted phrase not found in phrase index: "Myopathy, autophagic vacuolar, infantile-onset"
Page 1
Review: Danon disease: Review of natural history and recent advances.
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Neuropathol Appl Neurobiol. 2020 Jun;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25. Neuropathol Appl Neurobiol. 2020. PMID: 31698507 Review.
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....
An early molecular diagnosis is of crucial importance for genetic counselling and for therapeutic interventions: in male patients, the pr …
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X, Hong D. Jiang K, et al. Brain Behav. 2022 Feb;12(2):e2469. doi: 10.1002/brb3.2469. Epub 2022 Jan 3. Brain Behav. 2022. PMID: 34978387 Free PMC article.
CONCLUSIONS: Most patients with GFPT1-related CMS had tubular aggregates in the muscle biopsy, but some patients could show great diversities of the pathological change. The myopathological findings might be a biomarker to predict the prognosis of the disease....
CONCLUSIONS: Most patients with GFPT1-related CMS had tubular aggregates in the muscle biopsy, but some patients could show great diversitie …
X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
Rajeshwari M, Dhiman N, Chakrabarty B, Gulati S, Shamim U, Faruq M, Suri V, Sharma MC. Rajeshwari M, et al. Neurol India. 2022 Jul-Aug;70(4):1643-1648. doi: 10.4103/0028-3886.355110. Neurol India. 2022. PMID: 36076674 Free article.
Awareness of this rare entity is also important for the pathologists in order to distinguish it from other causes of vacuolar myopathy in view of its favourable prognosis. We report the first genetically confirmed case of XMEA from India in an 8-year-old boy which was diag …
Awareness of this rare entity is also important for the pathologists in order to distinguish it from other causes of vacuolar myopathy in vi …
A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P. Licchetta L, et al. Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7. Eur J Med Genet. 2015. PMID: 26360874
Patients harboring mutations different than the major deletion show a marked clinical heterogeneity, including protracted disease course with possible involvement of extraneuronal tissues. Cardiac involvement is relatively rare in JNCL and it is usually due to myocardial s …
Patients harboring mutations different than the major deletion show a marked clinical heterogeneity, including protracted disease course …
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Inoue-Shibui A, Niihori T, Kobayashi M, Suzuki N, Izumi R, Warita H, Hara K, Shirota M, Funayama R, Nakayama K, Nishino I, Aoki M, Aoki Y. Inoue-Shibui A, et al. J Hum Genet. 2021 Oct;66(10):965-972. doi: 10.1038/s10038-021-00916-y. Epub 2021 Mar 20. J Hum Genet. 2021. PMID: 33744911
The frameshift mutation was located in the last coding exon, and the mutated protein was predicted to harbor an isoleucine-leucine-valine (ILV) sequence, which corresponds to the IXI/V (isoleucine, X amino acids, and isoleucine or valine) motif. The IXI/V motif is essentia …
The frameshift mutation was located in the last coding exon, and the mutated protein was predicted to harbor an isoleucine-leucine-va …
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
Stojkovic T, Hammouda el H, Richard P, López de Munain A, Ruiz-Martinez J, Camaño P, Laforêt P, Pénisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage CA, Fardeau M, Eymard B. Stojkovic T, et al. Neuromuscul Disord. 2009 May;19(5):316-23. doi: 10.1016/j.nmd.2009.02.012. Epub 2009 Apr 11. Neuromuscul Disord. 2009. PMID: 19364651
Axial and lower limb muscles were often affected, whereas facial, oculobulbar muscles were spared. Ten patients were wheelchair bound after a mean disease course of 9 years and six patients required canes for walking. Two patients required mechanically assisted ventilation …
Axial and lower limb muscles were often affected, whereas facial, oculobulbar muscles were spared. Ten patients were wheelchair bound after …
Chloroquine myopathy and myasthenia-like syndrome.
Sghirlanzoni A, Mantegazza R, Mora M, Pareyson D, Cornelio F. Sghirlanzoni A, et al. Muscle Nerve. 1988 Feb;11(2):114-9. doi: 10.1002/mus.880110205. Muscle Nerve. 1988. PMID: 3343986
Discontinuation of chloroquine allowed symptomatic and immunological remission within 6 months. Ocular symptoms reappeared following a second short course of chloroquine. A motor-point biopsy revealed a vacuolar myopathy with membranous bodies in intramuscular nerves. ...
Discontinuation of chloroquine allowed symptomatic and immunological remission within 6 months. Ocular symptoms reappeared following a secon …
17 results