A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)

Zen Kobayashi; Taiji Tsunemi; Hirotomo Miake; Seiichi Tanaka; Sadakiyo Watabiki; Yuri Morokuma

doi:10.2169/internalmedicine.44.328

A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)

Zen Kobayashi^*, Taiji Tsunemi, Hirotomo Miake, Seiichi Tanaka, Sadakiyo Watabiki, Yuri Morokuma

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A→ G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.

Original language	English (US)
Pages (from-to)	328-331
Number of pages	4
Journal	Internal Medicine
Volume	44
Issue number	4
DOIs	https://doi.org/10.2169/internalmedicine.44.328
State	Published - Apr 2005

Keywords

Inherited diabetes and deafness (MIDD)
Maternally
Mitochondrial diabetes
Mitochondrial disease

ASJC Scopus subject areas

Internal Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.2169/internalmedicine.44.328

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abstract = "A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A→ G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.",

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AU - Tsunemi, Taiji

AU - Miake, Hirotomo

AU - Tanaka, Seiichi

AU - Watabiki, Sadakiyo

AU - Morokuma, Yuri

PY - 2005/4

Y1 - 2005/4

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AB - A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A→ G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.

KW - Inherited diabetes and deafness (MIDD)

KW - Maternally

KW - Mitochondrial diabetes

KW - Mitochondrial disease

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A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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