Rhabdomyolysis: a genetic perspective

Spectrum of metabolic myopathies

(2015) Corrado Angelini   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Overrepresentation of the ACTN3 XX Genotype in Elite Canoe and Kayak Paddlers

(2015) Joanna Orysiak et al.   JOURNAL OF STRENGTH AND CONDITIONING RESEARCH

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease

(2014) Renata Siciliani Scalco et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

(2014) J. P. Molenaar et al.   INTERNAL MEDICINE JOURNAL

Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager

(2014) Manish Prasad et al.   JOURNAL OF CHILD NEUROLOGY

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

(2014) Olimpia Musumeci et al.   JOURNAL OF NEUROLOGY

NovelANO5homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

(2014) Rajat Lahoria et al.   MUSCLE & NERVE

G.P.22

(2014) R.S. Scalco et al.   NEUROMUSCULAR DISORDERS

T.P.33

(2014) M. Cabrera et al.   NEUROMUSCULAR DISORDERS

Rhabdomyolysis: Review of the literature

(2014) R. Zutt et al.   NEUROMUSCULAR DISORDERS

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

(2014) Asmaa Mamoune et al.   PLoS Genetics

Genetic polymorphisms associated with exertional rhabdomyolysis

(2013) Patricia A. Deuster et al.   EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

(2013) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

(2013) Ferdinando Ceravolo et al.   EUROPEAN JOURNAL OF PEDIATRICS

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2013) Sissel Løseth et al.   JOURNAL OF NEUROLOGY

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

(2013) Deeksha S. Bali et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis

(2013) Teerin Liewluck et al.   MUSCLE & NERVE

NovelETFDHmutation and imaging findings in an adult with glutaric aciduria type II

(2013) Angela Rosenbohm et al.   MUSCLE & NERVE

Propofol-related infusion syndrome heralding a mitochondrial disease: Case report

(2013) M. Savard et al.   NEUROLOGY

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

(2013) C. R. Vissing et al.   NEUROLOGY

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

(2013) N. Dlamini et al.   NEUROMUSCULAR DISORDERS

Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, andRYR1Gene Sequence Variations

(2013) Antonella Carsana   TheScientificWorldJOURNAL

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

(2012) A. V. VANLANDER et al.   ACTA ANAESTHESIOLOGICA SCANDINAVICA

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

Myopathic causes of exercise intolerance with rhabdomyolysis

(2012) ROS QUINLIVAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Dysferlinopathy Presenting as Rhabdomyolysis and Acute Renal Failure

(2012) Shadé Moody et al.   JOURNAL OF CHILD NEUROLOGY

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

(2012) Caroline Michot et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations

(2012) Jean Bergounioux et al.   JOURNAL OF PEDIATRICS

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

(2012) Edoardo Malfatti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

(2012) Elisa Fermo et al.   MOLECULAR GENETICS AND METABOLISM

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama

(2012) Johnny Salameh et al.   MUSCLE & NERVE

Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease?

(2012) N. Preisler et al.   NEUROLOGY

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

(2012) Dimitrios I. Zafeiriou et al.   NEUROMUSCULAR DISORDERS

Episodes of exercise-induced dark urine and myalgia in LGMD 2I

(2011) C. Lindberg et al.   ACTA NEUROLOGICA SCANDINAVICA

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

(2011) M Fanin et al.   CLINICAL GENETICS

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

(2011) Rumiko Izumi et al.   INTERNAL MEDICINE

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I

(2011) K. D. Mathews et al.   NEUROLOGY

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

(2011) Irene Vieitez et al.   NEUROMUSCULAR DISORDERS

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

(2011) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2011) James J. Dowling et al.   NEUROMUSCULAR DISORDERS

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

(2011) Olimpia Musumeci et al.   NEUROMUSCULAR DISORDERS

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

(2011) Margherita Milone et al.   NEUROMUSCULAR DISORDERS

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

Analytic Reviews: Propofol Infusion Syndrome in the ICU

(2011) Daniel A. Diedrich et al.   JOURNAL OF INTENSIVE CARE MEDICINE

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Can inhalation agents be used in the presence of a child with myopathy?

(2010) Francis Veyckemans   Current Opinion in Anesthesiology

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

(2010) Nigel F. Clarke et al.   HUMAN MUTATION

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

(2010) Caroline Michot et al.   HUMAN MUTATION

CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage

(2010) Monica J. Hubal et al.   JOURNAL OF APPLIED PHYSIOLOGY

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

(2010) Rosetta Marotta et al.   JOURNAL OF CLINICAL NEUROSCIENCE

McArdle disease: a clinical review

(2010) R. Quinlivan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Malignant Hyperthermia-Like Syndrome and Carnitine Palmitoyltransferase II Deficiency with Heterozygous R503C Mutation

(2009) Kirk J. Hogan et al.   ANESTHESIA AND ANALGESIA

Muscle Phosphoglycerate Mutase Deficiency Revisited

(2009) Ali Naini et al.   ARCHIVES OF NEUROLOGY

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

(2009) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene

(2009) Paola Tonin et al.   NEUROMUSCULAR DISORDERS

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

(2009) Ronen Spiegel et al.   NEUROMUSCULAR DISORDERS

Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

(2009) Tanya Stojkovic et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

(2008) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IL6 (-174) and TNFA (-308) promoter polymorphisms are associated with systemic creatine kinase response to eccentric exercise

(2008) Chen Yamin et al.   EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY

The syndrome of rhabdomyolysis: Complications and treatment

(2008) Yiannis S. Chatzizisis et al.   European Journal of Internal Medicine

McArdle disease: what do neurologists need to know?

(2008) Alejandro Lucia et al.   Nature clinical practice. Neurology

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

(2007) Peter G. Barth et al.   NEUROMUSCULAR DISORDERS