Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.

H-J Gdynia; A-D Sperfeld; U Knirsch; V Homberg; A Rosenbohm; J Müller-Höcker; AC Ludolph; CO Hanemann

Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.

H-J Gdynia, A-D Sperfeld, U Knirsch, V Homberg, A Rosenbohm, J Müller-Höcker, AC Ludolph, CO Hanemann

Peninsula Medical School

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

Abstract

Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.

Original language	English
Pages (from-to)	545-546
Number of pages	0
Journal	Eur J Med Res
Volume	11
Issue number	12
Publication status	Published - 14 Dec 2006

Keywords

Axons
Humans
Hyperlipoproteinemias
Lipomatosis
Multiple Symmetrical
Male
Middle Aged
Mutation
Peripheral Nervous System Diseases
RNA
Mitochondrial
Transfer

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title = "Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.",

abstract = "Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.",

keywords = "Axons, Humans, Hyperlipoproteinemias, Lipomatosis, Multiple Symmetrical, Male, Middle Aged, Mutation, Peripheral Nervous System Diseases, RNA, Mitochondrial, Transfer",

author = "H-J Gdynia and A-D Sperfeld and U Knirsch and V Homberg and A Rosenbohm and J M{\"u}ller-H{\"o}cker and AC Ludolph and CO Hanemann",

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TY - JOUR

T1 - Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.

AU - Gdynia, H-J

AU - Sperfeld, A-D

AU - Knirsch, U

AU - Homberg, V

AU - Rosenbohm, A

AU - Müller-Höcker, J

AU - Ludolph, AC

AU - Hanemann, CO

PY - 2006/12/14

Y1 - 2006/12/14

N2 - Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.

AB - Benign symmetric lipomatosis, also called Madelung's disease, is characterized by lipomata and fatty infiltrations. Involvement of the nervous system has occasionally been described, mitochondrial dysfunctions have been suggested. We report a 55 year old male suffering from benign symmetric lipomatosis with associated axonal neuropathy and hyperlipoproteinemia. He showed a remarkable phenotype of neuropathy i.e. no sensory disturbance, ubiquitous fasciculations and muscle cramps, furthermore reduced COX activity and abnormalities in specific mitochondrial tRNA regions.

KW - Axons

KW - Humans

KW - Hyperlipoproteinemias

KW - Lipomatosis

KW - Multiple Symmetrical

KW - Male

KW - Middle Aged

KW - Mutation

KW - Peripheral Nervous System Diseases

KW - RNA

KW - Mitochondrial

KW - Transfer

M3 - Article

SN - 0949-2321

VL - 11

SP - 545

EP - 546

JO - Eur J Med Res

JF - Eur J Med Res

IS - 12

ER -

Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions.

Abstract

Keywords

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