Nemaline myopathy mechanisms

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© 1995 Nature Publishing Group http://www.nature.com/naturegenetics

Transcript of Nemaline myopathy mechanisms

Page 1: Nemaline myopathy mechanisms

© 1995 Nature Publishing Group http://www.nature.com/naturegenetics

Congenital myopathies: clinical phenotypes and new ...1. nemaline myopathy (subtypes: rod, core-rod, cap ... Respiratory failure or aspiration pneumonia will often lead to death in

Congenital myopathies: clinical phenotypes and new ...1. nemaline myopathy (subtypes: rod, core-rod, cap ... Respiratory failure or aspiration pneumonia will often lead to death in

32583 myopathy heridatery

32583 myopathy heridatery

Myopathy: A Closer Look

Myopathy: A Closer Look

Open Access Centronuclear (myotubular) myopathy Heinz

Open Access Centronuclear (myotubular) myopathy Heinz

Myopathy 03

Myopathy 03

Epidemiology of Inflammatory Myopathy

Epidemiology of Inflammatory Myopathy

Critical illness Polyneuropathy & Myopathy

Critical illness Polyneuropathy & Myopathy

Mitochondrial myopathy: a genetic study of 71 · Mitochondrial myopathy: a genetic study of 71 cases TABLE 1 Mitochondrial myopathy: clinical syndrome and incidence of affected relatives.

Mitochondrial myopathy: a genetic study of 71 · Mitochondrial myopathy: a genetic study of 71 cases TABLE 1 Mitochondrial myopathy: clinical syndrome and incidence of affected relatives.

Tentative Program NeurOlogy And Brain Disorders …...Medical Sciences, Lucknow, India KLHL40 Mutation associated with severe nemaline myopathy, fetal akinesia and cleft palate Guy

Tentative Program NeurOlogy And Brain Disorders …...Medical Sciences, Lucknow, India KLHL40 Mutation associated with severe nemaline myopathy, fetal akinesia and cleft palate Guy

Myopathy in SSc SCTC-EUSTAR study

Myopathy in SSc SCTC-EUSTAR study

Reduced myofibrillar connectivity and increased Z-disk width in … · 2011. 2. 1. · its Z-disk region) that cause nemaline myopathy (NM) in humans. NM is a member of a class of

Reduced myofibrillar connectivity and increased Z-disk width in … · 2011. 2. 1. · its Z-disk region) that cause nemaline myopathy (NM) in humans. NM is a member of a class of

MYOPATHY OF HYPOTHYROIDISM

MYOPATHY OF HYPOTHYROIDISM

Leiomodin-3-deficient mice display nemaline myopathy with ...lean mass, but not fat mass, were dramatically decreased in Lmod3PB/PB mice (Fig. 2B). The grip-strength assay showed that

Leiomodin-3-deficient mice display nemaline myopathy with ...lean mass, but not fat mass, were dramatically decreased in Lmod3PB/PB mice (Fig. 2B). The grip-strength assay showed that

Mitchondrial Myopathy

Mitchondrial Myopathy

A Cross-Sectional Study of Nemaline Myopathy

A Cross-Sectional Study of Nemaline Myopathy

Genetic Linkage Heterogeneity in Myotubular Myopathy

Genetic Linkage Heterogeneity in Myotubular Myopathy

Approach to myopathy Hereditary acquired.

Approach to myopathy Hereditary acquired.

Myopathy (General)

Myopathy (General)

A Case of Hypothyroid Myopathy

A Case of Hypothyroid Myopathy

HISTORY - ? myopathy Weakness vs fatigue: – Proximal vs distal (DM1, sIBM, FSH, nemaline rod, distal myopathy (TCAP (telethonin), hIBM (GNE)). – Exercise.

HISTORY - ? myopathy Weakness vs fatigue: – Proximal vs distal (DM1, sIBM, FSH, nemaline rod, distal myopathy (TCAP (telethonin), hIBM (GNE)). – Exercise.