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Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation

A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteu...

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Autores principales: Kojima, Yuta, Noto, Yu-ichi, Takewaki, Daiki, Tokuda, Naoki, Shiga, Kensuke, Hamano, Ai, Mizuta, Ikuko, Muranishi, Manabu, Kasai, Takashi, Nakagawa, Masanori, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635313/
https://www.ncbi.nlm.nih.gov/pubmed/28794355
http://dx.doi.org/10.2169/internalmedicine.6957-15
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author Kojima, Yuta
Noto, Yu-ichi
Takewaki, Daiki
Tokuda, Naoki
Shiga, Kensuke
Hamano, Ai
Mizuta, Ikuko
Muranishi, Manabu
Kasai, Takashi
Nakagawa, Masanori
Mizuno, Toshiki
author_facet Kojima, Yuta
Noto, Yu-ichi
Takewaki, Daiki
Tokuda, Naoki
Shiga, Kensuke
Hamano, Ai
Mizuta, Ikuko
Muranishi, Manabu
Kasai, Takashi
Nakagawa, Masanori
Mizuno, Toshiki
author_sort Kojima, Yuta
collection PubMed
description A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due to a DNAJB6 Phe93Leu mutation based on a targeted gene analysis. In the differential diagnosis of adult-onset LGMD syndromes, in addition to investigating the family history, it is important to perform an extensive physical examination to determine the pattern of muscle involvement, and to perform a muscle biopsy. Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy could be clues for the diagnosis of LGMD due to DNAJB6 mutations.
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spelling pubmed-56353132017-10-12 Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation Kojima, Yuta Noto, Yu-ichi Takewaki, Daiki Tokuda, Naoki Shiga, Kensuke Hamano, Ai Mizuta, Ikuko Muranishi, Manabu Kasai, Takashi Nakagawa, Masanori Mizuno, Toshiki Intern Med Case Report A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due to a DNAJB6 Phe93Leu mutation based on a targeted gene analysis. In the differential diagnosis of adult-onset LGMD syndromes, in addition to investigating the family history, it is important to perform an extensive physical examination to determine the pattern of muscle involvement, and to perform a muscle biopsy. Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy could be clues for the diagnosis of LGMD due to DNAJB6 mutations. The Japanese Society of Internal Medicine 2017-08-10 2017-09-01 /pmc/articles/PMC5635313/ /pubmed/28794355 http://dx.doi.org/10.2169/internalmedicine.6957-15 Text en Copyright © 2017 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Kojima, Yuta
Noto, Yu-ichi
Takewaki, Daiki
Tokuda, Naoki
Shiga, Kensuke
Hamano, Ai
Mizuta, Ikuko
Muranishi, Manabu
Kasai, Takashi
Nakagawa, Masanori
Mizuno, Toshiki
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title_full Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title_fullStr Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title_full_unstemmed Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title_short Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
title_sort characteristic posterior-dominant lower limb muscle involvement in limb-girdle muscular dystrophy due to a dnajb6 phe93leu mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635313/
https://www.ncbi.nlm.nih.gov/pubmed/28794355
http://dx.doi.org/10.2169/internalmedicine.6957-15
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