Original Article
VOLUME: 36 | ISSUE: 4 | Dec 31, 2020 | PAGE: (388 - 393) | DOI: 10.24911/BioMedica/5-85
Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy
Authors: Hai-ping Xia , Feng-Nan Niu , Biao Jin , Kang-ren Zhao Zhao , Rui Ma , Ming Yu
Article Info
Authors
Hai-ping Xia
Department of Neurology, 4th Hospital Affiliated to Jiangsu University, Jiangsu, P.R.China
Feng-Nan Niu
Department of Pathology, Medical School of Nanking University, Nanjing, Jiangsu, P.R.China
Biao Jin
Department of Neurology, 4th Hospital Affiliated to Jiangsu University, Jiangsu, P.R.China
Kang-ren Zhao Zhao
Department of Neurology, 4th Hospital Affiliated to Jiangsu University, Jiangsu, P.R.China
Rui Ma
Medical School, Jiangsu University, Jiangsu, P.R.China
Ming Yu
Affiliated Hospital of Jiangsu University, Jiangsu, P.R.China
Publication History
Received: October 17, 2020
Revised: November 28, 2020
Accepted: December 10, 2020
Published: December 31, 2020
Abstract
Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function. This study investigates the clinical and genetic characteristics of families with mitochondrial encephalomyopathy.
Methods: The clinical manifestations, biopsy and gene detection were retrospectively analyzed for four probands with definitively diagnosed mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) from three families with MELAS and/or maternally inherited diabetes and deafness (MIDD).
Results: The initial symptoms of probands were convulsive headache and/or epilepsy. The members of the three families also had diabetes, deafness, muscle weakness and short statures. Typical characteristics were indicated by muscle biopsy and gene detection in all.
Conclusion: We reveal that the same family can have MIDD and MELAS cases, which clearly show that the unique mutation may cause different syndromes in one family. Neurologists should take into account more possibilities and phenotypes in screening and genetic counselling for the families of probands.
Keywords: Mitochondrial encephalomyopathy, MELAS syndrome, MIDD syndrome, A3243G point mutation, Ragged red fibers
Pubmed Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. BioMedica. 2020; 31 (December 2020): 388-393. doi:10.24911/BioMedica/5-85
Web Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. https://biomedicapk.com/articles/online_first/85 [Access: April 29, 2024]. doi:10.24911/BioMedica/5-85
AMA (American Medical Association) Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. BioMedica. 2020; 31 (December 2020): 388-393. doi:10.24911/BioMedica/5-85
Vancouver/ICMJE Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. BioMedica. (2020), [cited April 29, 2024]; 31 (December 2020): 388-393. doi:10.24911/BioMedica/5-85
Harvard Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu (2020) Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. BioMedica, 31 (December 2020): 388-393. doi:10.24911/BioMedica/5-85
Chicago Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. "Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy." 31 (2020), 388-393. doi:10.24911/BioMedica/5-85
MLA (The Modern Language Association) Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu. "Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy." 31.December 2020 (2020), 388-393. Print. doi:10.24911/BioMedica/5-85
APA (American Psychological Association) Style
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu (2020) Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. , 31 (December 2020), 388-393. doi:10.24911/BioMedica/5-85