Mucolipidosis III alpha/beta, atypical

MedGen UID:: 392903
•Concept ID:: C2673375
•: Disease or Syndrome

Synonym:	Mucolipidosis III Alpha Beta, Atypical

OMIM®:	252600; 607840

Professional guidelines

PubMed

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Taconet S, Dreux S, Guimiot F, Pettazzoni M, Allaf B, Spaggiari E, Rosenblatt J, Khung-Savatovsky S
Prenat Diagn 2020 Apr;40(5):605-611. Epub 2020 Feb 11 doi: 10.1002/pd.5657. PMID: 32003481

Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment.

Kravtsov D, Mashukova A, Forteza R, Rodriguez MM, Ameen NA, Salas PJ
Am J Physiol Gastrointest Liver Physiol 2014 Nov 15;307(10):G992-G1001. Epub 2014 Sep 25 doi: 10.1152/ajpgi.00180.2014. PMID: 25258405 Free PMC Article

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Recent clinical studies

Etiology

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS
Clin Dysmorphol 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249. PMID: 30507725

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.

Ho CC, Tsung LL, Liu KT, Poon WT
BMC Med Genet 2018 Sep 12;19(1):162. doi: 10.1186/s12881-018-0679-5. PMID: 30208878 Free PMC Article

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