Limits...
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

Diffuse fatty degeneration and atrophy of anterolateral compartment muscles of both lower legs. Low perifascial fluid dispersion with T2 high signal change at left tibialis anterior muscle is probably a previous biopsy related change. (A) Axial T1-weighted (upper) and T2-weighted (lower) spin-echo images, (B) pre-contrast (upper) and post-contrast (lower) liver acceleration volume acquisition images.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4496523&req=5

Figure 1: Diffuse fatty degeneration and atrophy of anterolateral compartment muscles of both lower legs. Low perifascial fluid dispersion with T2 high signal change at left tibialis anterior muscle is probably a previous biopsy related change. (A) Axial T1-weighted (upper) and T2-weighted (lower) spin-echo images, (B) pre-contrast (upper) and post-contrast (lower) liver acceleration volume acquisition images.

Mentions: Electromyography (EMG) showed myopathic changes; short duration low amplitude polyphasic motor unit action potentials in early recruitment pattern that were found only in the muscles of the anterolateral compartment. Also, abnormal spontaneous activity was detected in the left tibialis anterior muscle. However, abnormal responses in the vastus medialis and gastrocnemius muscles were not observed. Nerve conduction studies revealed decreased amplitude of compound motor action potentials in the bilateral tibialis anterior muscles with no other abnormal finding. Magnetic Resonance Imaging (MRI) delineated diffuse fatty degeneration and atrophy of anterior and lateral compartment of the muscles of both lower legs (Fig. 1).


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)

Diffuse fatty degeneration and atrophy of anterolateral compartment muscles of both lower legs. Low perifascial fluid dispersion with T2 high signal change at left tibialis anterior muscle is probably a previous biopsy related change. (A) Axial T1-weighted (upper) and T2-weighted (lower) spin-echo images, (B) pre-contrast (upper) and post-contrast (lower) liver acceleration volume acquisition images.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496523&req=5

Figure 1: Diffuse fatty degeneration and atrophy of anterolateral compartment muscles of both lower legs. Low perifascial fluid dispersion with T2 high signal change at left tibialis anterior muscle is probably a previous biopsy related change. (A) Axial T1-weighted (upper) and T2-weighted (lower) spin-echo images, (B) pre-contrast (upper) and post-contrast (lower) liver acceleration volume acquisition images.
Mentions: Electromyography (EMG) showed myopathic changes; short duration low amplitude polyphasic motor unit action potentials in early recruitment pattern that were found only in the muscles of the anterolateral compartment. Also, abnormal spontaneous activity was detected in the left tibialis anterior muscle. However, abnormal responses in the vastus medialis and gastrocnemius muscles were not observed. Nerve conduction studies revealed decreased amplitude of compound motor action potentials in the bilateral tibialis anterior muscles with no other abnormal finding. Magnetic Resonance Imaging (MRI) delineated diffuse fatty degeneration and atrophy of anterior and lateral compartment of the muscles of both lower legs (Fig. 1).

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