Myopathies Related to Glycogen Metabolism Disorders

Perspective: Protein Requirements and Optimal Intakes in Aging: Are We Ready to Recommend More Than the Recommended Daily Allowance?

(2018) Daniel A Traylor et al.   Advances in Nutrition

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

(2017) Rafael Alvarez et al.   JOURNAL OF LIPID RESEARCH

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia

(2017) Chrystel Chéraud et al.   MUSCLE & NERVE

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

(2017) Mads Godtfeldt Stemmerik et al.   NEUROLOGY

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

(2016) Edoardo Malfatti et al.   NEUROMUSCULAR DISORDERS

Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M

(2016) Benjamin Koo et al.   NEUROMUSCULAR DISORDERS

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

(2016) H. Orhan Akman et al.   NEUROMUSCULAR DISORDERS

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

(2015) Mauricio De Castro et al.   GENETICS IN MEDICINE

Frequent misdiagnosis of adult polyglucosan body disease

(2015) Mark A. Hellmann et al.   JOURNAL OF NEUROLOGY

Infantile form of muscle phosphofructokinase deficiency in a premature neonate

(2015) Pei-Ling Wu et al.   PEDIATRICS INTERNATIONAL

Nutritional interventions to augment resistance training-induced skeletal muscle hypertrophy

(2015) Robert W. Morton et al.   Frontiers in Physiology

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

(2014) Edoardo Malfatti et al.   ANNALS OF NEUROLOGY

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

(2014) Olimpia Musumeci et al.   JOURNAL OF NEUROLOGY

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits

(2014) Alfredo Santalla et al.   Frontiers in Aging Neuroscience

Oxidative stress and Nrf2 signaling in McArdle disease

(2013) Yu Kitaoka et al.   MOLECULAR GENETICS AND METABOLISM

Branching Enzyme Deficiency

(2013) Carmen Paradas et al.   JAMA Neurology

Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease

(2012) Sergio García-Benítez et al.   JOURNAL OF CHILD NEUROLOGY

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

(2012) Alejandro Lucia et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

(2012) Nicolai Preisler 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

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

(2011) Shinya Sato et al.   MUSCLE & NERVE

Early fluid resuscitation in patients with rhabdomyolysis

(2011) Ori S. Better et al.   Nature Reviews Nephrology

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

(2011) Olimpia Musumeci et al.   NEUROMUSCULAR DISORDERS

A Case of McArdle Disease: Efficacy of Vitamin B6 on Fatigability and Impaired Glycogenolysis

(2010) Rumiko Izumi et al.   INTERNAL MEDICINE

Muscle phosphorylase b kinase deficiency revisited

(2010) Andoni Echaniz-Laguna et al.   NEUROMUSCULAR DISORDERS

Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

(2010) Ali-Reza Moslemi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Muscle Phosphoglycerate Mutase Deficiency Revisited

(2009) Ali Naini et al.   ARCHIVES OF NEUROLOGY

Effect of Changes in Fat Availability on Exercise Capacity in McArdle Disease

(2009) Susanne T. Andersen et al.   ARCHIVES OF NEUROLOGY

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations

(2009) Yoshiko Aoyama et al.   JOURNAL OF HUMAN GENETICS

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

(2009) Jessie M. Cameron et al.   MOLECULAR GENETICS AND METABOLISM

Fat metabolism during exercise in patients with McArdle disease

(2009) M. C. Orngreen et al.   NEUROLOGY

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

(2009) Paola Tonin et al.   NEUROMUSCULAR DISORDERS

Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis

(2009) Miguel García et al.   PLoS Genetics

Effect of Oral Sucrose Shortly Before Exercise on Work Capacity in McArdle Disease

(2008) Susanne Tvede Andersen et al.   ARCHIVES OF NEUROLOGY

The ketogenic diet: Uses in epilepsy and other neurologic illnesses

(2008) Kristin W. Barañano et al.   Current Treatment Options in Neurology

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

(2008) Molly E. McCue et al.   GENOMICS

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

(2008) M. C. Orngreen et al.   NEUROLOGY

PGC-1α increases skeletal muscle lactate uptake by increasing the expression of MCT1 but not MCT2 or MCT4

(2008) Carley R. Benton et al.   PHYSIOLOGICAL GENOMICS