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Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

Choi YA, Park SH, Yi Y, Kim K - Ann Rehabil Med (2015)

Bottom Line: Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.A 48-year-old female had a complaint of left foot drop since the age of 46 years.Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.

ABSTRACT
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

No MeSH data available.


Related in: MedlinePlus

(A) Immunohistochemical staining for desmin is negative. There is no accumulation except for only positive in regenerating myofibers. (B) Immunohistochemical staining for titin is positive. (C) Immunohistochemical staining for LDB3 (ZASP) is negative.
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Figure 2: (A) Immunohistochemical staining for desmin is negative. There is no accumulation except for only positive in regenerating myofibers. (B) Immunohistochemical staining for titin is positive. (C) Immunohistochemical staining for LDB3 (ZASP) is negative.

Mentions: Muscle biopsy from left tibialis anterior muscle showed several rimmed vacuoles found in many degenerated and atrophic myofibers. There was marked size variation of myofibers that were mostly rounded in shape. Marked endomyseal fibrosis and fatty change were present, which were consistent with severe myopathic change. Also immunohistochemistry of desmin (1:200; Dako, Glostrup, Denmark) for myofibrillar myopathies, Titin (TTN, 1:200; Abnova, Taiwan) for Finnish (tibial) distal myopathy, and ZASP (1:200) for Markesbery distal myopathy showed findings within normal limits. Some degenerating myofibers were positive for desmin antibodies (Fig. 2).


Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

Choi YA, Park SH, Yi Y, Kim K - Ann Rehabil Med (2015)

(A) Immunohistochemical staining for desmin is negative. There is no accumulation except for only positive in regenerating myofibers. (B) Immunohistochemical staining for titin is positive. (C) Immunohistochemical staining for LDB3 (ZASP) is negative.
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4496523&req=5

Figure 2: (A) Immunohistochemical staining for desmin is negative. There is no accumulation except for only positive in regenerating myofibers. (B) Immunohistochemical staining for titin is positive. (C) Immunohistochemical staining for LDB3 (ZASP) is negative.
Mentions: Muscle biopsy from left tibialis anterior muscle showed several rimmed vacuoles found in many degenerated and atrophic myofibers. There was marked size variation of myofibers that were mostly rounded in shape. Marked endomyseal fibrosis and fatty change were present, which were consistent with severe myopathic change. Also immunohistochemistry of desmin (1:200; Dako, Glostrup, Denmark) for myofibrillar myopathies, Titin (TTN, 1:200; Abnova, Taiwan) for Finnish (tibial) distal myopathy, and ZASP (1:200) for Markesbery distal myopathy showed findings within normal limits. Some degenerating myofibers were positive for desmin antibodies (Fig. 2).

Bottom Line: Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.A 48-year-old female had a complaint of left foot drop since the age of 46 years.Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.

ABSTRACT
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

No MeSH data available.


Related in: MedlinePlus